PMID- 15316975
OWN - NLM
STAT- MEDLINE
DCOM- 20050318
LR  - 20221207
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 129A
IP  - 2
DP  - 2004 Aug 30
TI  - A de novo complex karyotype with two independent balanced translocations and a 
      double inversion of chromosome 6 presenting with multiple congenital anomalies.
PG  - 124-9
AB  - We report a 4-year-old female with a de novo complex karyotype with multiple 
      chromosomal rearrangements and a distinctive phenotype. Her medical history is 
      significant for having been a twin born at 35 weeks gestation, breech 
      presentation, with feeding problems and poor growth as an infant, 
      gastroesophageal reflux disease, peripheral pulmonic stenosis, omphalocele, high 
      myopia, and severe mental retardation. She is small for her age with 
      microcephaly, posteriorly sloping forehead, shallow orbits, long palpebral 
      fissures, prominent nose, wide mouth, absent uvula, kyphosis, brachydactyly, 
      bridged palmar crease, and hypertonia. Peripheral blood lymphocytes revealed a 
      karyotype of 46,XX,t(1;12)(p22.3;q21.3),inv(6)(p24q23),t(7;18)(q11.2;q21.2) in 
      all cells. Parental karyotypes and that of her twin were normal. Spectral 
      Karyotyping (SKY) and fluorescence in situ hybridization (FISH) with whole 
      chromosome paints for chromosomes 1, 6, 7, 12, and 18 did not reveal additional 
      rearrangements. Prometaphase G-banding analysis suggested that the "inverted" 
      chromosome 6 might contain a cryptic rearrangement. Although no deletion nor 
      duplication was detected using metaphase comparative genomic hybridization (CGH), 
      multicolor high resolution banding (mBAND) demonstrated a double inversion of 
      chromosome 6, resulting in a final karyotype as above but including der(6)(pter 
      --> p23::q21 --> q22.3::q21 --> p23::q22.3 --> qter).
CI  - Copyright 2004 Wiley-Liss, Inc.
FAU - Kline, Antonie D
AU  - Kline AD
AD  - Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, Maryland 
      21204, USA. Akline@gbmc.org
FAU - Griffin, Constance A
AU  - Griffin CA
FAU - Haddadin, Mary H
AU  - Haddadin MH
FAU - Chudoba, Ilse
AU  - Chudoba I
FAU - Morsberger, Laura A
AU  - Morsberger LA
FAU - Hawkins, Anita L
AU  - Hawkins AL
FAU - Amato, R Stephen
AU  - Amato RS
FAU - Munshi, Gaurang
AU  - Munshi G
FAU - Cohen, Maimon M
AU  - Cohen MM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Black or African American
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*genetics
MH  - Chromosomes, Human, Pair 6/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Nucleic Acid Hybridization
MH  - *Phenotype
MH  - Spectral Karyotyping
EDAT- 2004/08/19 05:00
MHDA- 2005/03/19 09:00
CRDT- 2004/08/19 05:00
PHST- 2004/08/19 05:00 [pubmed]
PHST- 2005/03/19 09:00 [medline]
PHST- 2004/08/19 05:00 [entrez]
AID - 10.1002/ajmg.a.30130 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2004 Aug 30;129A(2):124-9. doi: 10.1002/ajmg.a.30130.